Incidental Mutation 'R9228:Abcb11'
| ID |
699981 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Abcb11
|
| Ensembl Gene |
ENSMUSG00000027048 |
| Gene Name |
ATP-binding cassette, sub-family B member 11 |
| Synonyms |
sister of P-glycoprotein, ABC16, PFIC2, Bsep, PGY4, Lith1 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.732)
|
| Stock # |
R9228 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
69068626-69172960 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to T
at 69138809 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 157
(Y157*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099771
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102709]
[ENSMUST00000102710]
[ENSMUST00000180142]
|
| AlphaFold |
Q9QY30 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000102709
AA Change: Y157*
|
| SMART Domains |
Protein: ENSMUSP00000099770
Gene: ENSMUSG00000027048
AA Change: Y157*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ABC_membrane
|
62 |
373 |
1.3e-65 |
PFAM |
|
AAA
|
447 |
639 |
1.65e-17 |
SMART |
|
Pfam:ABC_membrane
|
755 |
1031 |
2.7e-55 |
PFAM |
|
AAA
|
1105 |
1299 |
1.9e-17 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000102710
AA Change: Y157*
|
| SMART Domains |
Protein: ENSMUSP00000099771
Gene: ENSMUSG00000027048
AA Change: Y157*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ABC_membrane
|
62 |
371 |
1.7e-72 |
PFAM |
|
AAA
|
447 |
639 |
1.65e-17 |
SMART |
|
Pfam:ABC_membrane
|
755 |
1029 |
3.2e-59 |
PFAM |
|
AAA
|
1105 |
1299 |
1.9e-17 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000180142
AA Change: Y157*
|
| SMART Domains |
Protein: ENSMUSP00000137017
Gene: ENSMUSG00000027048
AA Change: Y157*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ABC_membrane
|
62 |
371 |
1.4e-72 |
PFAM |
|
AAA
|
447 |
639 |
1.65e-17 |
SMART |
|
Pfam:ABC_membrane
|
755 |
1029 |
2.5e-59 |
PFAM |
|
AAA
|
1105 |
1299 |
1.9e-17 |
SMART |
|
| Meta Mutation Damage Score |
0.9756 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (87/87) |
| MGI Phenotype |
FUNCTION: The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance. The protein encoded by this gene is the major canalicular bile salt transporter in humans and mice. Mutations in the human gene cause a form of progressive familial intrahepatic cholestases which are a group of inherited disorders with severe cholestatic liver disease from early infancy. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for targeted mutations that inactivate the gene display intrahepatic cholestasis. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(3) : Targeted, knock-out(1) Targeted, other(2) |
| Other mutations in this stock |
Total: 86 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810037I17Rik |
G |
A |
3: 122,718,274 (GRCm39) |
A56T |
probably benign |
Het |
| 4930438A08Rik |
A |
T |
11: 58,178,296 (GRCm39) |
I119F |
|
Het |
| Abca12 |
A |
T |
1: 71,332,599 (GRCm39) |
I1254N |
probably damaging |
Het |
| Adcy7 |
G |
A |
8: 89,044,675 (GRCm39) |
|
probably null |
Het |
| Adnp |
A |
G |
2: 168,026,798 (GRCm39) |
Y166H |
probably damaging |
Het |
| Adprhl1 |
A |
G |
8: 13,275,279 (GRCm39) |
V493A |
probably benign |
Het |
| Ahctf1 |
T |
C |
1: 179,611,685 (GRCm39) |
T562A |
probably benign |
Het |
| Amotl1 |
T |
A |
9: 14,504,320 (GRCm39) |
N296I |
possibly damaging |
Het |
| Ankar |
A |
G |
1: 72,713,210 (GRCm39) |
V693A |
probably benign |
Het |
| Ankrd16 |
T |
C |
2: 11,786,318 (GRCm39) |
V189A |
probably benign |
Het |
| Bmp1 |
A |
G |
14: 70,757,338 (GRCm39) |
L47P |
probably benign |
Het |
| Cacna2d4 |
A |
G |
6: 119,248,476 (GRCm39) |
D429G |
probably benign |
Het |
| Cadps2 |
T |
A |
6: 23,688,927 (GRCm39) |
E127D |
probably benign |
Het |
| Cd109 |
A |
T |
9: 78,577,042 (GRCm39) |
I580F |
possibly damaging |
Het |
| Cdrt4 |
T |
A |
11: 62,842,124 (GRCm39) |
I2N |
unknown |
Het |
| Cep250 |
C |
T |
2: 155,812,042 (GRCm39) |
A446V |
unknown |
Het |
| Chuk |
A |
T |
19: 44,095,789 (GRCm39) |
W15R |
probably damaging |
Het |
| Cpvl |
C |
T |
6: 53,951,779 (GRCm39) |
M1I |
probably null |
Het |
| Cyfip1 |
A |
G |
7: 55,549,758 (GRCm39) |
M642V |
probably damaging |
Het |
| Dhh |
T |
A |
15: 98,795,757 (GRCm39) |
R133* |
probably null |
Het |
| Dnmt3b |
G |
A |
2: 153,507,980 (GRCm39) |
V212M |
probably benign |
Het |
| Dync2li1 |
A |
G |
17: 84,957,137 (GRCm39) |
S301G |
probably benign |
Het |
| Epas1 |
A |
C |
17: 87,133,990 (GRCm39) |
I500L |
possibly damaging |
Het |
| Ephb4 |
A |
T |
5: 137,352,824 (GRCm39) |
I136F |
possibly damaging |
Het |
| Foxg1 |
T |
C |
12: 49,431,320 (GRCm39) |
F18L |
unknown |
Het |
| Frem1 |
T |
C |
4: 82,920,057 (GRCm39) |
E432G |
probably damaging |
Het |
| Gpld1 |
A |
T |
13: 25,136,900 (GRCm39) |
S73C |
probably damaging |
Het |
| Hddc3 |
A |
G |
7: 79,993,328 (GRCm39) |
I52V |
probably benign |
Het |
| Hmgcll1 |
A |
T |
9: 75,991,732 (GRCm39) |
T252S |
probably damaging |
Het |
| Igsf10 |
G |
A |
3: 59,243,843 (GRCm39) |
R164W |
probably damaging |
Het |
| Jph2 |
A |
G |
2: 163,180,606 (GRCm39) |
V675A |
probably benign |
Het |
| Kifap3 |
T |
C |
1: 163,689,666 (GRCm39) |
F550S |
probably benign |
Het |
| Klk15 |
C |
T |
7: 43,587,790 (GRCm39) |
H73Y |
possibly damaging |
Het |
| Kplce |
C |
T |
3: 92,775,951 (GRCm39) |
G244D |
probably benign |
Het |
| L1td1 |
T |
C |
4: 98,625,932 (GRCm39) |
V643A |
possibly damaging |
Het |
| L3mbtl3 |
C |
T |
10: 26,212,155 (GRCm39) |
M255I |
unknown |
Het |
| Layn |
T |
A |
9: 50,968,837 (GRCm39) |
D302V |
probably damaging |
Het |
| Lpcat4 |
A |
G |
2: 112,072,418 (GRCm39) |
I136V |
possibly damaging |
Het |
| Lrp1 |
T |
A |
10: 127,382,807 (GRCm39) |
D3658V |
probably damaging |
Het |
| Metap1d |
T |
C |
2: 71,352,900 (GRCm39) |
L243S |
possibly damaging |
Het |
| Midn |
T |
A |
10: 79,990,275 (GRCm39) |
H315Q |
probably damaging |
Het |
| Mtrex |
A |
T |
13: 113,050,888 (GRCm39) |
|
probably null |
Het |
| Myb |
C |
T |
10: 21,030,612 (GRCm39) |
D62N |
probably benign |
Het |
| Myh2 |
T |
C |
11: 67,077,522 (GRCm39) |
S886P |
probably benign |
Het |
| Nemf |
T |
C |
12: 69,388,093 (GRCm39) |
I396V |
probably damaging |
Het |
| Nemp1 |
T |
G |
10: 127,525,227 (GRCm39) |
V127G |
possibly damaging |
Het |
| Nkx3-1 |
C |
T |
14: 69,428,227 (GRCm39) |
T25M |
possibly damaging |
Het |
| Nmral1 |
A |
C |
16: 4,531,631 (GRCm39) |
L208R |
probably damaging |
Het |
| Nol6 |
A |
T |
4: 41,116,422 (GRCm39) |
I989N |
probably benign |
Het |
| Or12e7 |
T |
A |
2: 87,287,907 (GRCm39) |
C133S |
possibly damaging |
Het |
| Palld |
A |
T |
8: 62,173,571 (GRCm39) |
S363T |
probably damaging |
Het |
| Pcdha11 |
A |
G |
18: 37,144,512 (GRCm39) |
D201G |
probably damaging |
Het |
| Per2 |
A |
G |
1: 91,366,081 (GRCm39) |
C339R |
probably damaging |
Het |
| Phactr4 |
T |
C |
4: 132,097,874 (GRCm39) |
T455A |
possibly damaging |
Het |
| Phc2 |
T |
C |
4: 128,617,062 (GRCm39) |
I445T |
probably damaging |
Het |
| Pmepa1 |
T |
C |
2: 173,117,962 (GRCm39) |
T6A |
probably benign |
Het |
| Polr1a |
T |
C |
6: 71,931,755 (GRCm39) |
F945L |
probably damaging |
Het |
| Ppp2r5e |
T |
A |
12: 75,640,063 (GRCm39) |
K13* |
probably null |
Het |
| Ptafr |
T |
C |
4: 132,306,613 (GRCm39) |
M1T |
probably null |
Het |
| Rbms1 |
G |
A |
2: 60,610,087 (GRCm39) |
P208S |
probably benign |
Het |
| Scg3 |
T |
A |
9: 75,558,955 (GRCm39) |
I419F |
probably damaging |
Het |
| Scn1a |
T |
C |
2: 66,130,099 (GRCm39) |
T219A |
probably benign |
Het |
| Sec14l4 |
A |
G |
11: 3,989,977 (GRCm39) |
D92G |
probably damaging |
Het |
| Senp3 |
G |
T |
11: 69,569,085 (GRCm39) |
Q359K |
probably damaging |
Het |
| Sirt1 |
T |
C |
10: 63,172,857 (GRCm39) |
D142G |
probably damaging |
Het |
| Skint2 |
T |
C |
4: 112,483,039 (GRCm39) |
M148T |
possibly damaging |
Het |
| Slc30a10 |
T |
A |
1: 185,187,391 (GRCm39) |
M44K |
probably damaging |
Het |
| Snai2 |
T |
A |
16: 14,524,792 (GRCm39) |
D99E |
probably damaging |
Het |
| Spg7 |
A |
G |
8: 123,807,408 (GRCm39) |
K395E |
possibly damaging |
Het |
| Sphk2 |
G |
A |
7: 45,360,337 (GRCm39) |
H556Y |
possibly damaging |
Het |
| Supt6 |
A |
C |
11: 78,116,612 (GRCm39) |
F637L |
probably benign |
Het |
| Tcam1 |
A |
G |
11: 106,177,292 (GRCm39) |
N428S |
probably damaging |
Het |
| Tctn3 |
C |
T |
19: 40,596,692 (GRCm39) |
R276K |
probably benign |
Het |
| Timm29 |
G |
A |
9: 21,504,656 (GRCm39) |
R108H |
probably damaging |
Het |
| Tlr9 |
A |
T |
9: 106,102,752 (GRCm39) |
E681V |
possibly damaging |
Het |
| Tmco1 |
C |
T |
1: 167,136,132 (GRCm39) |
|
probably benign |
Het |
| Tns3 |
T |
C |
11: 8,400,094 (GRCm39) |
K1169E |
probably damaging |
Het |
| Trim72 |
A |
C |
7: 127,608,315 (GRCm39) |
D271A |
possibly damaging |
Het |
| Trpv4 |
A |
T |
5: 114,772,622 (GRCm39) |
D369E |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,583,192 (GRCm39) |
L22567P |
probably damaging |
Het |
| Uimc1 |
G |
A |
13: 55,223,652 (GRCm39) |
P207S |
probably damaging |
Het |
| Unc5d |
A |
T |
8: 29,165,448 (GRCm39) |
V781E |
probably damaging |
Het |
| Upk3bl |
C |
T |
5: 136,086,076 (GRCm39) |
P4L |
unknown |
Het |
| Vmn1r201 |
A |
G |
13: 22,659,670 (GRCm39) |
N295D |
probably benign |
Het |
| Vmn2r69 |
A |
G |
7: 85,064,697 (GRCm39) |
I63T |
probably benign |
Het |
| Zfyve28 |
T |
C |
5: 34,374,788 (GRCm39) |
T409A |
probably benign |
Het |
|
| Other mutations in Abcb11 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00544:Abcb11
|
APN |
2 |
69,115,025 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL01407:Abcb11
|
APN |
2 |
69,076,288 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01583:Abcb11
|
APN |
2 |
69,126,753 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
IGL01813:Abcb11
|
APN |
2 |
69,117,936 (GRCm39) |
splice site |
probably benign |
|
|
IGL01885:Abcb11
|
APN |
2 |
69,117,971 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01937:Abcb11
|
APN |
2 |
69,117,956 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02058:Abcb11
|
APN |
2 |
69,073,842 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02117:Abcb11
|
APN |
2 |
69,154,169 (GRCm39) |
splice site |
probably benign |
|
|
IGL02119:Abcb11
|
APN |
2 |
69,158,344 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL02120:Abcb11
|
APN |
2 |
69,087,654 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02158:Abcb11
|
APN |
2 |
69,130,269 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02212:Abcb11
|
APN |
2 |
69,079,233 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02306:Abcb11
|
APN |
2 |
69,095,801 (GRCm39) |
nonsense |
probably null |
|
|
IGL02505:Abcb11
|
APN |
2 |
69,076,105 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02538:Abcb11
|
APN |
2 |
69,136,949 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
IGL02793:Abcb11
|
APN |
2 |
69,122,293 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL02863:Abcb11
|
APN |
2 |
69,115,026 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02875:Abcb11
|
APN |
2 |
69,122,293 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL03164:Abcb11
|
APN |
2 |
69,122,343 (GRCm39) |
nonsense |
probably null |
|
|
IGL03181:Abcb11
|
APN |
2 |
69,158,352 (GRCm39) |
intron |
probably benign |
|
|
3-1:Abcb11
|
UTSW |
2 |
69,158,337 (GRCm39) |
missense |
probably benign |
0.00 |
|
FR4737:Abcb11
|
UTSW |
2 |
69,073,862 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0031:Abcb11
|
UTSW |
2 |
69,115,652 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0398:Abcb11
|
UTSW |
2 |
69,117,010 (GRCm39) |
missense |
probably null |
0.82 |
|
R0413:Abcb11
|
UTSW |
2 |
69,158,355 (GRCm39) |
intron |
probably benign |
|
|
R0437:Abcb11
|
UTSW |
2 |
69,087,639 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0496:Abcb11
|
UTSW |
2 |
69,108,228 (GRCm39) |
splice site |
probably benign |
|
|
R0646:Abcb11
|
UTSW |
2 |
69,115,627 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0669:Abcb11
|
UTSW |
2 |
69,159,662 (GRCm39) |
missense |
probably benign |
0.15 |
|
R0856:Abcb11
|
UTSW |
2 |
69,154,262 (GRCm39) |
missense |
probably benign |
|
|
R1061:Abcb11
|
UTSW |
2 |
69,108,153 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1460:Abcb11
|
UTSW |
2 |
69,087,718 (GRCm39) |
splice site |
probably benign |
|
|
R1714:Abcb11
|
UTSW |
2 |
69,136,925 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1739:Abcb11
|
UTSW |
2 |
69,091,910 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1856:Abcb11
|
UTSW |
2 |
69,076,267 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1994:Abcb11
|
UTSW |
2 |
69,113,014 (GRCm39) |
splice site |
probably null |
|
|
R2086:Abcb11
|
UTSW |
2 |
69,089,820 (GRCm39) |
splice site |
probably benign |
|
|
R2133:Abcb11
|
UTSW |
2 |
69,154,227 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R2516:Abcb11
|
UTSW |
2 |
69,159,673 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R2930:Abcb11
|
UTSW |
2 |
69,087,702 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R3771:Abcb11
|
UTSW |
2 |
69,159,720 (GRCm39) |
splice site |
probably benign |
|
|
R3772:Abcb11
|
UTSW |
2 |
69,159,720 (GRCm39) |
splice site |
probably benign |
|
|
R3979:Abcb11
|
UTSW |
2 |
69,154,320 (GRCm39) |
missense |
probably benign |
0.11 |
|
R4227:Abcb11
|
UTSW |
2 |
69,115,120 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4255:Abcb11
|
UTSW |
2 |
69,136,949 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4614:Abcb11
|
UTSW |
2 |
69,115,025 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4647:Abcb11
|
UTSW |
2 |
69,115,615 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4719:Abcb11
|
UTSW |
2 |
69,089,971 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4734:Abcb11
|
UTSW |
2 |
69,154,306 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R4765:Abcb11
|
UTSW |
2 |
69,076,211 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4861:Abcb11
|
UTSW |
2 |
69,076,249 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4861:Abcb11
|
UTSW |
2 |
69,076,249 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4870:Abcb11
|
UTSW |
2 |
69,069,540 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4988:Abcb11
|
UTSW |
2 |
69,154,236 (GRCm39) |
missense |
probably benign |
0.12 |
|
R5028:Abcb11
|
UTSW |
2 |
69,104,356 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5048:Abcb11
|
UTSW |
2 |
69,138,850 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5177:Abcb11
|
UTSW |
2 |
69,115,639 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5301:Abcb11
|
UTSW |
2 |
69,117,191 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5789:Abcb11
|
UTSW |
2 |
69,076,108 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5892:Abcb11
|
UTSW |
2 |
69,091,844 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6003:Abcb11
|
UTSW |
2 |
69,073,811 (GRCm39) |
missense |
probably benign |
0.43 |
|
R6252:Abcb11
|
UTSW |
2 |
69,122,305 (GRCm39) |
missense |
probably benign |
0.10 |
|
R6389:Abcb11
|
UTSW |
2 |
69,154,238 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6512:Abcb11
|
UTSW |
2 |
69,112,996 (GRCm39) |
missense |
probably benign |
|
|
R6590:Abcb11
|
UTSW |
2 |
69,115,062 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6690:Abcb11
|
UTSW |
2 |
69,115,062 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6732:Abcb11
|
UTSW |
2 |
69,117,190 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6870:Abcb11
|
UTSW |
2 |
69,115,642 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7028:Abcb11
|
UTSW |
2 |
69,096,019 (GRCm39) |
missense |
probably benign |
|
|
R7223:Abcb11
|
UTSW |
2 |
69,104,487 (GRCm39) |
missense |
probably benign |
|
|
R7323:Abcb11
|
UTSW |
2 |
69,117,979 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7337:Abcb11
|
UTSW |
2 |
69,076,113 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7339:Abcb11
|
UTSW |
2 |
69,130,211 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7340:Abcb11
|
UTSW |
2 |
69,130,211 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7341:Abcb11
|
UTSW |
2 |
69,130,211 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7343:Abcb11
|
UTSW |
2 |
69,130,211 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7366:Abcb11
|
UTSW |
2 |
69,130,211 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7393:Abcb11
|
UTSW |
2 |
69,130,211 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7394:Abcb11
|
UTSW |
2 |
69,130,211 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7405:Abcb11
|
UTSW |
2 |
69,117,963 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7411:Abcb11
|
UTSW |
2 |
69,134,280 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7488:Abcb11
|
UTSW |
2 |
69,108,146 (GRCm39) |
missense |
probably benign |
|
|
R7544:Abcb11
|
UTSW |
2 |
69,095,830 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7660:Abcb11
|
UTSW |
2 |
69,117,938 (GRCm39) |
splice site |
probably null |
|
|
R7754:Abcb11
|
UTSW |
2 |
69,117,162 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7771:Abcb11
|
UTSW |
2 |
69,069,535 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7794:Abcb11
|
UTSW |
2 |
69,117,022 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R7834:Abcb11
|
UTSW |
2 |
69,115,068 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7897:Abcb11
|
UTSW |
2 |
69,154,217 (GRCm39) |
small deletion |
probably benign |
|
|
R7897:Abcb11
|
UTSW |
2 |
69,154,216 (GRCm39) |
frame shift |
probably null |
|
|
R7937:Abcb11
|
UTSW |
2 |
69,154,217 (GRCm39) |
small deletion |
probably benign |
|
|
R8004:Abcb11
|
UTSW |
2 |
69,087,554 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R8089:Abcb11
|
UTSW |
2 |
69,104,383 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8279:Abcb11
|
UTSW |
2 |
69,069,549 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8426:Abcb11
|
UTSW |
2 |
69,155,606 (GRCm39) |
missense |
probably benign |
|
|
R8441:Abcb11
|
UTSW |
2 |
69,087,574 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8460:Abcb11
|
UTSW |
2 |
69,154,381 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R8462:Abcb11
|
UTSW |
2 |
69,104,499 (GRCm39) |
missense |
probably benign |
|
|
R8532:Abcb11
|
UTSW |
2 |
69,090,035 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R8534:Abcb11
|
UTSW |
2 |
69,154,190 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8711:Abcb11
|
UTSW |
2 |
69,095,856 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8746:Abcb11
|
UTSW |
2 |
69,087,754 (GRCm39) |
intron |
probably benign |
|
|
R8964:Abcb11
|
UTSW |
2 |
69,117,061 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R8990:Abcb11
|
UTSW |
2 |
69,104,494 (GRCm39) |
missense |
|
|
|
R9081:Abcb11
|
UTSW |
2 |
69,122,388 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R9093:Abcb11
|
UTSW |
2 |
69,069,513 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9294:Abcb11
|
UTSW |
2 |
69,095,840 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
X0058:Abcb11
|
UTSW |
2 |
69,119,787 (GRCm39) |
missense |
probably benign |
0.12 |
|
X0062:Abcb11
|
UTSW |
2 |
69,076,250 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0065:Abcb11
|
UTSW |
2 |
69,130,210 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1176:Abcb11
|
UTSW |
2 |
69,122,325 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Abcb11
|
UTSW |
2 |
69,159,613 (GRCm39) |
critical splice donor site |
probably null |
|
|
Z1177:Abcb11
|
UTSW |
2 |
69,136,873 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACAGGCAGCAACTTAGCAGG -3'
(R):5'- CAGCACAACTGGCTTGTTAAAAC -3'
Sequencing Primer
(F):5'- GCAACTTAGCAGGAAATGTCTAC -3'
(R):5'- GGCTTGTTAAAACTTTTCTCTGCATG -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation